Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Three M Syndrome 2
go back to main search page
Accession:DOID:9006598 term browser browse the term
Definition:3M syndrome-2 (3M2) is characterized by low birth weight and short stature, relative macrocephaly, lumbar hyperlordosis, and prominent heels. Dysmorphic facial features include triangular face with frontal bossing and midface hypoplasia, anteverted nares with fleshy nasal tip, and full fleshy lips. 3M2 is caused by homozygous or compound heterozygous mutation in the OBSL1 gene on chromosome 2q35. (OMIM)
Synonyms:exact_synonym: 3M SYNDROME 2;   3M2
 primary_id: MESH:C567862
 alt_id: OMIM:612921;   RDO:0012070
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Three M Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by OMIM:612921
ClinVar Annotator: match by term: Three M syndrome 2
OMIM
ClinVar
PMID:16531729, PMID:17681982, PMID:19481195, PMID:19877176, PMID:20164589, PMID:25741868, PMID:25923536, PMID:27796265, PMID:28492532, PMID:28969986 NCBI chr 9:82,673,871...82,699,577
Ensembl chr 9:82,680,384...82,699,551
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      3-M syndrome 3
        Three M Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          bone disease 3536
            bone development disease 1343
              Dwarfism 495
                3-M syndrome 3
                  Three M Syndrome 2 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.